Incidental Mutation 'R0165:Abca15'
ID 24107
Institutional Source Beutler Lab
Gene Symbol Abca15
Ensembl Gene ENSMUSG00000054746
Gene Name ATP-binding cassette, sub-family A member 15
Synonyms 4930500I12Rik
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119927893-120006910 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 119950126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]
AlphaFold E9PWH4
Predicted Effect probably benign
Transcript: ENSMUST00000076272
SMART Domains Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 5.7e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 892 1293 7.9e-24 PFAM
AAA 1381 1565 1.16e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121265
SMART Domains Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 2.1e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 907 1293 1e-25 PFAM
AAA 1381 1565 1.16e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140459
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
Allele List at MGI

All alleles(2) : Targeted(2

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Brd1 T C 15: 88,613,980 (GRCm39) N305S probably damaging Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Ddhd1 G A 14: 45,833,049 (GRCm39) T849M probably damaging Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Epha2 T C 4: 141,049,203 (GRCm39) probably null Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Stat6 T C 10: 127,493,096 (GRCm39) V576A probably damaging Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Wdhd1 A G 14: 47,504,525 (GRCm39) S350P probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P probably damaging Het
Other mutations in Abca15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Abca15 APN 7 119,996,277 (GRCm39) missense probably damaging 1.00
IGL00505:Abca15 APN 7 119,968,459 (GRCm39) critical splice donor site probably null
IGL00851:Abca15 APN 7 119,939,230 (GRCm39) missense probably damaging 1.00
IGL00985:Abca15 APN 7 119,996,241 (GRCm39) missense probably damaging 1.00
IGL01114:Abca15 APN 7 119,960,643 (GRCm39) missense probably damaging 0.99
IGL01287:Abca15 APN 7 119,932,081 (GRCm39) utr 3 prime probably benign
IGL01333:Abca15 APN 7 119,981,531 (GRCm39) missense probably damaging 1.00
IGL01482:Abca15 APN 7 119,981,969 (GRCm39) missense probably benign 0.00
IGL01610:Abca15 APN 7 119,939,867 (GRCm39) missense probably damaging 0.98
IGL02238:Abca15 APN 7 119,995,829 (GRCm39) missense probably benign 0.02
IGL02377:Abca15 APN 7 119,965,133 (GRCm39) splice site probably benign
IGL02666:Abca15 APN 7 119,934,431 (GRCm39) missense probably damaging 1.00
IGL02836:Abca15 APN 7 119,987,439 (GRCm39) missense probably benign
IGL03337:Abca15 APN 7 119,995,930 (GRCm39) missense probably benign 0.24
IGL03354:Abca15 APN 7 119,993,711 (GRCm39) nonsense probably null
H8562:Abca15 UTSW 7 119,974,077 (GRCm39) splice site probably benign
IGL03098:Abca15 UTSW 7 119,987,499 (GRCm39) splice site probably null
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0076:Abca15 UTSW 7 119,972,908 (GRCm39) splice site probably benign
R0311:Abca15 UTSW 7 120,002,127 (GRCm39) missense probably damaging 0.98
R0387:Abca15 UTSW 7 119,932,075 (GRCm39) critical splice donor site probably null
R0610:Abca15 UTSW 7 119,965,009 (GRCm39) missense possibly damaging 0.75
R0612:Abca15 UTSW 7 119,936,478 (GRCm39) missense probably damaging 1.00
R0704:Abca15 UTSW 7 119,953,746 (GRCm39) missense probably damaging 0.98
R0890:Abca15 UTSW 7 119,972,936 (GRCm39) missense probably benign 0.01
R0961:Abca15 UTSW 7 119,960,208 (GRCm39) nonsense probably null
R1144:Abca15 UTSW 7 119,960,083 (GRCm39) splice site probably benign
R1412:Abca15 UTSW 7 119,944,546 (GRCm39) missense possibly damaging 0.93
R1419:Abca15 UTSW 7 119,974,125 (GRCm39) missense probably benign 0.10
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1493:Abca15 UTSW 7 119,981,513 (GRCm39) missense probably benign 0.00
R1513:Abca15 UTSW 7 119,939,322 (GRCm39) missense probably damaging 0.96
R1702:Abca15 UTSW 7 119,981,925 (GRCm39) missense probably benign 0.10
R1857:Abca15 UTSW 7 119,960,592 (GRCm39) missense probably damaging 1.00
R1893:Abca15 UTSW 7 119,939,776 (GRCm39) missense possibly damaging 0.85
R1901:Abca15 UTSW 7 119,945,322 (GRCm39) missense probably damaging 1.00
R1951:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1953:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1962:Abca15 UTSW 7 119,940,468 (GRCm39) missense probably damaging 1.00
R2063:Abca15 UTSW 7 119,960,127 (GRCm39) missense possibly damaging 0.61
R2141:Abca15 UTSW 7 120,006,697 (GRCm39) missense probably damaging 1.00
R2145:Abca15 UTSW 7 119,953,701 (GRCm39) missense probably benign 0.08
R2182:Abca15 UTSW 7 119,939,450 (GRCm39) nonsense probably null
R2425:Abca15 UTSW 7 119,959,033 (GRCm39) missense probably damaging 1.00
R2444:Abca15 UTSW 7 119,965,120 (GRCm39) missense probably damaging 1.00
R3023:Abca15 UTSW 7 119,982,002 (GRCm39) missense probably benign 0.40
R3079:Abca15 UTSW 7 119,984,392 (GRCm39) missense probably damaging 1.00
R3106:Abca15 UTSW 7 119,995,856 (GRCm39) missense possibly damaging 0.63
R3622:Abca15 UTSW 7 119,950,036 (GRCm39) nonsense probably null
R4085:Abca15 UTSW 7 119,981,949 (GRCm39) missense probably damaging 1.00
R4233:Abca15 UTSW 7 120,002,202 (GRCm39) nonsense probably null
R4591:Abca15 UTSW 7 119,981,636 (GRCm39) missense probably damaging 1.00
R4612:Abca15 UTSW 7 119,934,384 (GRCm39) missense probably benign 0.03
R4721:Abca15 UTSW 7 119,949,998 (GRCm39) missense probably benign 0.01
R4838:Abca15 UTSW 7 119,944,523 (GRCm39) missense probably benign 0.00
R4940:Abca15 UTSW 7 119,931,917 (GRCm39) missense probably benign
R4963:Abca15 UTSW 7 119,960,142 (GRCm39) missense probably damaging 1.00
R4993:Abca15 UTSW 7 120,000,941 (GRCm39) missense probably damaging 0.99
R5022:Abca15 UTSW 7 119,945,319 (GRCm39) missense probably damaging 0.98
R5030:Abca15 UTSW 7 119,939,224 (GRCm39) missense probably damaging 1.00
R5072:Abca15 UTSW 7 120,006,198 (GRCm39) missense probably damaging 1.00
R5090:Abca15 UTSW 7 119,984,422 (GRCm39) missense probably damaging 1.00
R5309:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5310:Abca15 UTSW 7 119,931,839 (GRCm39) missense possibly damaging 0.46
R5312:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5482:Abca15 UTSW 7 119,968,370 (GRCm39) missense probably damaging 1.00
R5596:Abca15 UTSW 7 120,000,972 (GRCm39) missense possibly damaging 0.94
R5853:Abca15 UTSW 7 119,939,806 (GRCm39) missense probably benign 0.00
R5950:Abca15 UTSW 7 119,981,879 (GRCm39) missense probably damaging 1.00
R5953:Abca15 UTSW 7 119,960,241 (GRCm39) missense probably damaging 1.00
R6072:Abca15 UTSW 7 119,987,481 (GRCm39) missense probably damaging 0.98
R6131:Abca15 UTSW 7 119,939,428 (GRCm39) missense probably benign 0.03
R6132:Abca15 UTSW 7 119,960,643 (GRCm39) missense probably benign 0.14
R6136:Abca15 UTSW 7 119,939,272 (GRCm39) missense possibly damaging 0.81
R6207:Abca15 UTSW 7 119,973,017 (GRCm39) missense probably benign 0.01
R6315:Abca15 UTSW 7 119,945,315 (GRCm39) missense probably damaging 1.00
R6417:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6420:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6595:Abca15 UTSW 7 119,993,710 (GRCm39) missense probably benign 0.00
R6653:Abca15 UTSW 7 119,945,229 (GRCm39) missense probably benign 0.03
R6859:Abca15 UTSW 7 120,002,217 (GRCm39) nonsense probably null
R6983:Abca15 UTSW 7 119,953,686 (GRCm39) missense probably benign 0.26
R7127:Abca15 UTSW 7 119,931,825 (GRCm39) missense probably benign 0.06
R7205:Abca15 UTSW 7 119,993,587 (GRCm39) missense possibly damaging 0.89
R7336:Abca15 UTSW 7 119,987,456 (GRCm39) missense possibly damaging 0.66
R7426:Abca15 UTSW 7 119,945,221 (GRCm39) missense possibly damaging 0.88
R7745:Abca15 UTSW 7 119,931,440 (GRCm39) missense probably damaging 1.00
R7751:Abca15 UTSW 7 119,965,044 (GRCm39) missense possibly damaging 0.72
R7806:Abca15 UTSW 7 119,932,059 (GRCm39) missense probably damaging 0.96
R8042:Abca15 UTSW 7 120,002,233 (GRCm39) missense possibly damaging 0.95
R8098:Abca15 UTSW 7 119,960,619 (GRCm39) missense probably benign 0.09
R8153:Abca15 UTSW 7 119,999,812 (GRCm39) missense probably damaging 1.00
R8247:Abca15 UTSW 7 119,936,445 (GRCm39) missense possibly damaging 0.83
R8259:Abca15 UTSW 7 119,939,422 (GRCm39) missense probably benign 0.00
R8272:Abca15 UTSW 7 120,006,665 (GRCm39) missense probably damaging 1.00
R8295:Abca15 UTSW 7 119,974,188 (GRCm39) missense probably benign 0.00
R8757:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8759:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8905:Abca15 UTSW 7 119,960,771 (GRCm39) missense probably benign 0.28
R9145:Abca15 UTSW 7 119,987,388 (GRCm39) missense probably benign 0.13
R9217:Abca15 UTSW 7 119,987,439 (GRCm39) missense probably benign
R9264:Abca15 UTSW 7 120,001,056 (GRCm39) missense probably benign 0.14
R9517:Abca15 UTSW 7 119,987,424 (GRCm39) missense probably benign 0.07
RF018:Abca15 UTSW 7 119,993,683 (GRCm39) missense possibly damaging 0.50
Z1176:Abca15 UTSW 7 119,981,728 (GRCm39) missense probably damaging 0.99
Z1176:Abca15 UTSW 7 119,945,249 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGCACTCTTACTGGTTTGGAGAACCAC -3'
(R):5'- GAGATGAATCACCTGAGCTGCATACTG -3'

Sequencing Primer
(F):5'- TGGTTTGGAGAACCACCTCAAC -3'
(R):5'- CTGAGCTGCATACTGATATCCAG -3'
Protein Function and Prediction

Abca15 encodes ABCA15, a member of the ATP-binding cassette (ABC) transporter superfamily.  The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca15 has been cloned rat and mouse; no human orthologue has been described. The ABCA15 has two nucleotide-binding folds and two transmembrane domains.  Abca15 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis. 

Posted On 2013-04-16